Canonical Allele Identifier: CA350323432
Community Standard Title: NM_020919.4(ALS2):c.4228G>C (p.Glu1410Gln)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201709933C>G , CM000664.2:g.201709933C>G GRCh38
NC_000002.11:g.202574656C>G , CM000664.1:g.202574656C>G GRCh37
NC_000002.10:g.202282901C>G NCBI36
NG_008775.1:g.76240G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4228G>C MANE Select NP_065970.2:p.Glu1410Gln
ENST00000264276.11:c.4228G>C MANE Select ENSP00000264276.6:p.Glu1410Gln
NM_020919.3:c.4228G>C NP_065970.2:p.Glu1410Gln
ENST00000264276.10:c.4228G>C ENSP00000264276.6:p.Glu1410Gln
ENST00000439495.5:c.2332G>C
ENST00000439495.6:c.*408G>C ENSP00000403832.2:n.*408G>C
ENST00000679409.1:c.*698G>C ENSP00000506531.1:n.*698G>C
ENST00000679416.1:n.5732G>C
ENST00000679427.1:n.1664G>C
ENST00000679435.1:c.4228G>C ENSP00000505218.1:p.Glu1410Gln
ENST00000679516.1:c.4228G>C ENSP00000505187.1:p.Glu1410Gln
ENST00000679618.1:c.*1316G>C ENSP00000506274.1:n.*1316G>C
ENST00000679630.1:n.6077G>C
ENST00000679635.1:n.2255G>C
ENST00000679686.1:n.4342G>C
ENST00000679701.1:n.7220G>C
ENST00000679916.1:c.*576G>C ENSP00000506172.1:n.*576G>C
ENST00000680000.1:c.4228G>C ENSP00000506173.1:p.Glu1410Gln
ENST00000680135.1:c.*2189G>C ENSP00000506211.1:n.*2189G>C
ENST00000680149.1:c.4225G>C ENSP00000506497.1:p.Glu1409Gln
ENST00000680163.1:c.4228G>C ENSP00000505092.1:p.Glu1410Gln
ENST00000680174.1:n.4919G>C
ENST00000680236.1:c.*1289G>C ENSP00000506212.1:n.*1289G>C
ENST00000680441.1:n.2786G>C
ENST00000680497.1:c.4330G>C ENSP00000505954.1:p.Glu1444Gln
ENST00000680508.1:c.4225G>C ENSP00000505749.1:p.Glu1409Gln
ENST00000680569.1:c.*1936G>C ENSP00000505522.1:n.*1936G>C
ENST00000680634.1:n.736G>C
ENST00000680722.1:n.2028G>C
ENST00000680726.1:c.4228G>C ENSP00000505505.1:p.Glu1410Gln
ENST00000680759.1:c.4060G>C ENSP00000505848.1:p.Glu1354Gln
ENST00000680814.1:c.4228G>C ENSP00000505710.1:p.Glu1410Gln
ENST00000680828.1:c.*1922G>C ENSP00000505249.1:n.*1922G>C
ENST00000680861.1:c.4228G>C ENSP00000505043.1:p.Glu1410Gln
ENST00000680927.1:c.*408G>C ENSP00000505473.1:n.*408G>C
ENST00000680939.1:n.4570G>C
ENST00000681250.1:c.*945G>C ENSP00000505684.1:n.*945G>C
ENST00000681256.1:c.*2243G>C ENSP00000505446.1:n.*2243G>C
ENST00000681279.1:n.5094G>C
ENST00000681307.1:n.5341G>C
ENST00000681461.1:n.4996G>C
ENST00000681495.1:c.1765G>C ENSP00000506085.1:p.Glu589Gln
ENST00000681558.1:c.1906G>C ENSP00000505568.1:p.Glu636Gln
ENST00000681619.1:c.4225G>C ENSP00000505071.1:p.Glu1409Gln
ENST00000681663.1:n.1134G>C
ENST00000681692.1:n.2188G>C
ENST00000681716.1:c.*2082G>C ENSP00000505078.1:n.*2082G>C
ENST00000681768.1:c.*1892G>C ENSP00000506311.1:n.*1892G>C
ENST00000681808.1:c.4228G>C ENSP00000505219.1:p.Glu1410Gln
XM_005246709.2:c.4225G>C XP_005246766.1:p.Glu1409Gln
XM_006712654.1:c.4228G>C XP_006712717.1:p.Glu1410Gln
XM_006712654.3:c.4228G>C XP_006712717.1:p.Glu1410Gln
XM_006712655.2:c.2164G>C XP_006712718.1:p.Glu722Gln
XM_006712655.3:c.2164G>C XP_006712718.1:p.Glu722Gln
XM_011511530.1:c.3889G>C XP_011509832.1:p.Glu1297Gln
XM_017004569.2:c.4225G>C XP_016860058.1:p.Glu1409Gln
XM_017004572.2:c.1846G>C XP_016860061.1:p.Glu616Gln
XM_024453024.1:c.3889G>C XP_024308792.1:p.Glu1297Gln
XM_024453025.1:c.2161G>C XP_024308793.1:p.Glu721Gln
XR_001738864.2:n.4363G>C
XR_001738865.2:n.4360G>C
XR_001738866.2:n.4506G>C
XR_001738867.2:n.4503G>C
XR_002959320.1:n.3419G>C
XR_922974.1:n.4506G>C